Revel Score:
ENST00000377824
0.192
ENST00000318158 (MANE Select)
0.192
ENST00000438860
0.192
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429756A>G , CM000671.2:g.37429756A>G | GRCh38 |
| NC_000009.11:g.37429753A>G , CM000671.1:g.37429753A>G | GRCh37 |
| NC_000009.10:g.37419753A>G | NCBI36 |
| NG_008135.1:g.12047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.518A>G MANE Select | ENSP00000313432.6:p.Lys173Arg | |
| ENST00000318158.10:c.518A>G | ENSP00000313432.6:p.Lys173Arg | |
| ENST00000377824.8:n.555A>G | ||
| ENST00000460882.5:n.545A>G | ||
| ENST00000480596.5:n.1219A>G | ||
| ENST00000491488.5:n.223A>G | ||
| ENST00000494290.1:c.89A>G | ENSP00000432021.1:p.Lys30Arg | |
| ENST00000497693.1:n.2051A>G | ||
| ENST00000607784.1:c.518A>G | ENSP00000475569.1:p.Lys173Arg | |
| NM_012203.1:c.518A>G | NP_036335.1:p.Lys173Arg | |
| XM_005251631.1:c.197A>G | XP_005251688.1:p.Lys66Arg | |
| XM_011518073.1:c.116A>G | XP_011516375.1:p.Lys39Arg | |
| XR_929374.1:n.963A>G | ||
| XM_017015320.2:c.518A>G | XP_016870809.1:p.Lys173Arg | |
| XM_017015321.2:c.518A>G | XP_016870810.1:p.Lys173Arg | |
| XM_017015323.2:c.116A>G | XP_016870812.1:p.Lys39Arg | |
| XM_024447716.1:c.791A>G | XP_024303484.1:p.Lys264Arg | |
| XM_024447717.1:c.791A>G | XP_024303485.1:p.Lys264Arg | |
| XR_002956828.1:n.806A>G | ||
| XR_002956829.1:n.806A>G | ||
| XR_002956830.1:n.577A>G | ||
| XR_002956831.1:n.252A>G | ||
| XR_002956832.1:n.937A>G | ||
| NM_012203.2:c.518A>G MANE Select | NP_036335.1:p.Lys173Arg |